5613004 NEWBORN SCREENING FOR SICKLE CELL DISEASE IN GERMANY - THE FIRST YEAR
Authors: S. Lobitz, J.B. Kunz, U. Ceglarek, R. Grosse, D. Hakimeh, U. Holtkamp, A. Jarisch, J. Klein, A.E. Kulozik, P. Mirtschink, S. Murko, T. Neisse, U. Nennstiel-Ratzel, L. Oevermann, M. Rödel, S. Rönicke, N. Sinemus, T. Winter, H. Cario
Journal: HemaSphere (2023)

Newborn screening is the first and most important step in secondary prevention in children with sickle cell disease. Serious complications and deaths can be almost completely prevented by ensuring the necessary preventive measures against infection (vaccinations and penicillin prophylaxis) and with the help of training measures that enable parents to recognize the symptoms of acute anemia/hemolysis in good time. In 2017, as part of a consensus conference with over 50 participants from 13 nations, the requirements that a newborn screening program for sickle cell disease should meet were defined. In Germany, we have consistently implemented these requirements. In addition, a total of five pilot studies involving almost 220,000 participants were carried out. These studies have shown that if sickle cell disease were part of newborn screening, it would probably be one of the most prevalent target diseases. On the basis of the consensus document and the epidemiological data collected for the first time, the relevant institutions and authorities could ultimately be convinced of the usefulness of the screening. The amendment to the law required for the introduction of screening came into force on September 30, 2021. Since then, all children born in Germany have also been screened for sickle cell disease as part of the national newborn screening program. Due to the federal organization of the German state, there is still no official evaluation of the screening results. However, we conducted a survey among the eleven German screening laboratories and the 47 pediatric haematology centers that will take on the long-term care of the sick children. The data indicate that in the first year, approximately 120-150 of 800,000 newborns have sickle cell disease. The German authorities have approved HPLC, capillary electrophoresis and tandem mass spectrometry as measurement methods in screening. Deviating from this, some laboratories use molecular genetic methods to screen for the HbS mutation. In the laboratories participating in our survey, 13 false-positive findings were recorded during the survey period. 4 children had thalassemia major, which is not formally a target disease but is of course definitely worth reporting. Four children were HbS heterozygous. Three children had very rare hemoglobin variants and in three children we have no feedback on the false positive finding. We assume that the heterozygotes and the rare variants were reported out of uncertainty and fall under the “starting difficulties” category. These false positives all occurred within the first few weeks of the program and could be eliminated by retraining the laboratory staff. Conclusion: Not only, but also thanks to the constant support of our European colleagues, especially in the form of the 2017 consensus paper, we have succeeded in introducing newborn screening for sickle cell disease. The first preliminary data show that sickle cell disease, with a prevalence of 1:5000 - 1:6000, will be one of the top diagnoses in screening even in Germany. References 1. Lobitz et al, Int J Neonatal Screen,2021;7(1):7 2. Lobitz et al, Br J Haematol, 2018;183(4):648-660